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Träfflista för sökning "WFRF:(Lindquist Suzanne G) srt2:(2009)"

Sökning: WFRF:(Lindquist Suzanne G) > (2009)

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1.
  • Puschmann, Andreas, et al. (författare)
  • A Swedish family with de novo alpha-synuclein A53T mutation: Evidence for early cortical dysfunction.
  • 2009
  • Ingår i: Parkinsonism & Related Disorders. - : Elsevier. - 1873-5126. ; 15, s. 627-632
  • Tidskriftsartikel (refereegranskat)abstract
    • A de novo alpha-synuclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), severe levodopa-responsive PD with prominent dysphasia, dysarthria, and cognitive decline. Longitudinal clinical follow-up, EEG, SPECT and CSF biomarker examinations suggested an underlying encephalopathy with cortical involvement. The mutated allele (c.209A) was present within a haplotype different from that shared among mutation carriers in the Italian (Contursi) and the Greek-American Family H kindreds. One unaffected family member carried the mutation haplotype without the c.209A mutation, strongly suggesting its de novo occurrence within this family. Furthermore, a novel mutation c.488G > A (p.Arg163His; R163H) in the presenilin-2 (PSEN2) gene was detected, but was not associated with disease state.
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2.
  • Schultz, Kristofer, et al. (författare)
  • Reduced CSF CART in dementia with Lewy bodies.
  • 2009
  • Ingår i: Neuroscience letters. - : Elsevier. - 0304-3940. ; 453:2, s. 104-6
  • Tidskriftsartikel (refereegranskat)abstract
    • Dementia with Lewy bodies (DLB) is the second most common form of neurodegenerative dementia after Alzheimer's disease (AD). The underlying neurobiological mechanism of DLB is not fully understood and no generally accepted biomarkers are yet available for the diagnosis of DLB. In a recent MRI study, DLB patients displayed hypothalamic atrophy whereas this region was not affected in AD patients. Cocaine and amphetamine regulated transcript (CART) is a neuropeptide expressed selectively in neurons in the hypothalamus. Here, we found that CSF CART levels were significantly reduced by 30% in DLB patients (n = 12) compared to controls (n = 12) as well as to AD patients (n = 14) using radioimmunoassay. Our preliminary results suggest that reduced CSF CART is a sign of hypothalamic dysfunction in DLB and that it may serve as a biomarker for this patient group.
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